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Delineating the genotypic and phenotypic spectrum of HECW2-..:
Acharya, Anushree
;
Kavus, Haluk
;
Dunn, Patrick
...
10.1136/jmedgenet-2021-107871. , 2023
Link:
http://hdl.handle.net/10138/353339
RT Journal T1
Delineating the genotypic and phenotypic spectrum of HECW2-related neurodevelopmental disorders
UL https://suche.suub.uni-bremen.de/peid=base-ftunivhelsihelda:oai:helda.helsinki.fi:10138_353339&Exemplar=1&LAN=DE A1 Acharya, Anushree A1 Kavus, Haluk A1 Dunn, Patrick A1 Nasir, Abdul A1 Folk, Leandra A1 Withrow, Kara A1 Wentzensen, Ingrid M A1 Ruzhnikov, Maura R. Z A1 Fallot, Camille A1 Smol, Thomas A1 Rama, Melanie A1 Brown, Kathleen A1 Whalen, Sandra A1 Ziegler, Alban A1 Barth, Magali A1 Chassevent, Anna A1 Smith-Hicks, Constance A1 Afenjar, Alexandra A1 Courtin, Thomas A1 Heide, Solveig A1 Font-Montgomery, Esperanza A1 Heid, Caleb A1 Hamm, J. Austin A1 Love, Donald R A1 Thabet, Farouq A1 Misra, Vinod K A1 Cunningham, Mitch A1 Leal, Suzanne M A1 Järvelä, Irma A1 Normand, Elizabeth A A1 Zou, Fanggeng A1 Helal, Mayada A1 Keren, Boris A1 Torti, Erin A1 Chung, Wendy K A1 Schrauwen, Isabelle PB BMJ Publishing Group Ltd YR 2023 K1 neurology K1 genetic variation K1 phenotype K1 human genetics K1 INTELLECTUAL DISABILITY K1 UBIQUITIN LIGASE K1 VARIANTS K1 HECW2 K1 MUTATIONS K1 NEDL2 K1 GENETICS K1 GENES K1 Biomedicine K1 developmental biology K1 physiology JF 10.1136/jmedgenet-2021-107871 LK http://hdl.handle.net/10138/353339 DO http://hdl.handle.net/10138/353339 SF ELIB - SuUB Bremen
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